Hypothesis

2550Fnt 658 G to T, Ala to SerR, 26012

PatientID: 25

KindredID: 6012

Case: F, 50Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Another member of her family, (patient 26) presented with one radiologic pancreatic neuroendocrine tumor and had the same VHL gene mutation.

CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

CaseHPOFreeText: She presented with two radiologic pancreatic endocrine tumour.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.A149S (c.445G>T)

LegacyVariant: p.A149S (c.658G>T)

CaseProblemVariantFreeText: N/A

ClinVar:127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

CAID: CA020355 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.445G%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: A149S (c.445G>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:50 AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:missense_variant;transversion ClinVarID:127829 CAID:CA020355 CivicName:A149S(c.445G>T) Familial cdnaposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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